A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431354



Internal ID210132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47673348..47943908hg38UCSC Ensembl
chr1:48139020..48409580hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38270561
hg19270561
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902676
Samples
Known GenesTRABD2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431354
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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